Variant · Snv
RUNX1 NM_001754.5(RUNX1):c.1039A>G (p.Met347Val)
CI-VAR-00121160Explore in graph →p.Met347ValNM_001754.5:c.1039A>GClinVar 657868 rs1601333587
Curated evidence
Evidence by cancer (0 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
Data not yet available
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 657868 | Uncertain significance | reviewed by expert panel | 3 | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1; Acute myeloid leukemia; Hereditary thrombocytopenia and hematologic cancer predisposition syndrome; RUNX1-related disorder; Inborn genetic diseases | germline | 6 | Oct 29, 2024 | clinvar |